CONGENITAL ANORECTAL

ANOMALIES
Dr Jose Antonio Hernandez Liven

4/11/2016
 OUTLINE

• EMBRYOLOGY
• EPIDEMIOLOGY
• TYPES
• CLINICAL FEATURES
• INVESTIGATIONS
• TREATMENT
• COMPLICATIONS

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 Embryology
• Development of the Rectum and
Anus
• The rectum and the proximal half of
the anus, which are endodermal in
origin, are developed from the dorsal
part of the cloaca while the distal half
of the anus, which is of ectodermal
origin, arises from the anal pit or
proctoderm.
• The cloaca is the blind terminal
portion of the hindgut into which the
allantois opens.
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• A urorectal septum arise from the
angle between the opening of the
allantois and the cloaca and grows
caudally to fuse with the blind end
thus dividing the dorsal portion, the
rectum, from the ventral portion of
the urogenital sinus.
• Failure of fusion gives rise to a fistula
between the rectum and urethra (in
male) or vagina (in female).
Cont’d

• The rectal portion of the blind end of the cloaca is the anal
membrane separating the proximal portion of the anus from the
ectodermal depression, the proctoderm, which later becomes the
distal portion of the anus.
• The anal membrane lies at the level of the anal valves and breaks
down by the 8th week to establish continuity of the lumen.
• The anal tubercles around the proctodeum fuse with the lateral
genital folds
• The proctodeum in its development “migrates” posteriorly along
the perineum.

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 EPIDEMIOLOGY

• One infant in 4500 live births

• No sexual predilection
• No racial difference

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 CLASSIFICATION OF CONGENITAL ANOMALIES
OF THE ANORECTUM

Female Male
• High • High
Anorectal agenesis with or without Anorectal agenesis with or without
rectovaginal fistula
Rectal atresia rectoprostatic urethral fistula
Rectal atresia
• Intermediate
Anorectal agenesis with or without • Intermediate
rectovaginal fistula Anorectal agenesis with or without
Anal agenesis rectobulbar urethral fistula
• Low Anal agenesis
Anovestibular or anocutaneous
fistula (anteriorly displaced anus) • Low
Anal stenosis Anocutaneous fistula (anteriorly
   Cloaca displaced anus)
——- Anal stenosis

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 Types of Anomalies
• Low anomaly (Infra-levator): in this type the bowel passes through
the pelvic floor before it becomes abnormal and so has the
puborectalis sling and internal and external sphincters. Continence is
therefore achieved in at least 90%.

• High anomaly (Supra-levator): The bowel ends above the levator ani
which is contracted around the urethra in the male and vagina in the
female. The internal sphincter is not developed and the external
sphincter is hypoplastic. Continence is, therefore, achieved in small
proportion of patients after a long period of time.

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 Low Anomalies-(60%)

Types
•Covered Anus
•Ectopic Anus
•Persistent Anal Membrane
•Anal Stenosis
•Anal Agenesis

CAAPE

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 Covered Anus

• In this type, the anal canal and sphincters are normally developed,
but the anal orifice is covered by skin arising from the excessive
fusion of the anal tubercles and lateral genital folds.

• The covering skin may have a small opening either in the centre or
by the side through which meconium or flatus may pass.

• A covered anus is usually associated with some narrowing of the

anal canal.

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 Ectopic Anus
• The anus opens in an ectopic
site usually in the vulva,
vestibule, lower vagina or the
perineum. It is caused by failure
of the anal opening to
“migrate” posteriorly to its
proper position.
Persistent Anal Membrane
• Is caused by the complete or
incomplete failure of the anal
membrane to break down and
establish continuity between the
rectum and the anal pit.

• The sphincters are normally

developed. Is more common in
females

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 Anal Stenosis
• It is narrowing of the anus and
is rare.
• Symptoms will occur early only
if narrowing is severe.
6/2/2011
ANAL AGENESIS
• It results from non-
development of the anal pit and
excessive fusion of the anal
tubercles.
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 Associated Anomalies
1. Gastrointestinal abnormalities
• Oesophageal atresia
• Intestinal atresia, malrotation of the gut.

2. Skeletal abnormalities
• Sacral agenesis occurs in about a third of the patients with high
anomaly.
• A sacrum of 3 segments or less may be associated with neurological
anomalies of the bladder, pelvic floor and sphincters.

3. Urinary Anomalies
• About 30% of all patients have urinary tract anomalies.
• Megaureter, hydronephrosis
• Malformation of the kidneys occurs in about a third of patients
with a high anomaly

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Cont’d

4. Genital Anomalies
Septate vagina or bicornuate uterus due to failure of fusion of the
Mullerian ducts may occur.

5. Congenital Heart lesions- may also exist.

6. Nervous System Anomalies:

- Tethered cord
- Stenosis of the dural sac
- Narrow spinal cord.

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 HIGH ANOMALIES (SUPRA- LEVATOR)

• The bowel ends above the lavetor ani muscle which is contracted
around the urethra in the male and vagina in the female.

• The internal sphincter is not developed and the external sphincter is

hypoplastic.

• Therefore continence is achieved only in a small proportion of

patients after a long period of training.

• Also high anomalies are often associated with a fistulous connection

between the blind rectal stump and the bladder , or other
abnormalities of the pelvic structures.

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 HIGH ANOMALIES (SUPRA- LEVATOR)

They include:
• Anorectal agenesis
• Rectal atresia with normal anal canal
• Cloaca

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 ANORECTAL AGENESIS RECTAL ATRESIA WITH NORMAL ANAL
CANAL
• The lower part of the rectum • In this type ,the anal canal is
and the anus are absent and the normally developed but the
gut may end in a dilated pouch. rectum ends blindly above the
• Failure of complete division of pelvic floor and is not connected
the cloaca into urogenital sinus to the urethra or vagina
and rectum may result in a
fistulous tract between the blind
pouch and the posterior urethra
in the male or posterior vaginal
fornix in female , so the
meconium and gas may appear
in the urethra in male or vagina.

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 CLOACA
• This occurs only in females and here the bowels , urinary and genital
tracts all open into a common wide cavity.
• Commonly severe malformations of the areas are associated with
other developmental abnormalities.

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 CLINICAL FEATURES

• All neonates should be carefully examined at birth for any

anomalies.
• Where an anorectal anomaly is suspected , the perineum, vulva ,
vagina, scrotum and penis should be well inspected for any small
opening, skin folds or meconium staining which may help to
determine the type of anomaly and so the type of treatment to be
given.
• A flat perineum without an anal dimple suggests that the anomaly is
probably high.
• An anal dimple suggests a low anomaly.
• Meconium may be seen through the skin suggesting an ectopic anus
if it is outside of the anal region ,and a membrane if it is at the
expected site of the region

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 Patient usually present in two groups:
1.Those without obstruction:
• They have an adequate external opening

• They are usually females suffering from anorectal agenesis with an

adequate vaginal fistula, an ectopic anus with a wide opening ,or an
anorectal stenosis.

• No obstructive symptoms but the meconium or faeces pass through

the vagina or perineum.

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2. Those with obstructive symptoms:
i. No meconium is passed from birth, vomiting is late and
abdomen is distended. Such patients may have anorectal
agenesis without fistula, complete anal membrane or
rectal atresia.
ii. Small amounts of meconium are passed, but the baby is
distended and may vomit .The cause may be anorectal
agenesis with a narrow fistula, a covered anus or ectopic
anus with a narrow opening ,or anorectal stenosis.

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 Investigations

• Plain X-ray of the abdomen: Procedure: X – ray of the lateral view of

baby head-down is taken with x-ray tube centred on the greater
trochanter
• Relation of the lower end of the gas shadows to a line joining the
pubic symphysis and the coccyx is noted.
• If it is above the line (i.e on the abd. Side) then the anomaly is most
probably a high one.
• If it below it then it’s a low one
• Ix valid only if it is done 18-24 hrs after birth when swallowed air
should have reached the rectum
• Associated intestinal atresia is suspected if gaseous distension is
found in the stomach and proximal intestinal and not distal colon.
• Any sacral or lumber abnormality is noted

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 Investigations

• IVU and voiding cystourethrogram are necessary to find if there is

any associated anomalities
• USS ,CT & MRI give no clear definition of the end of the bowel and
any associated anomalities
• Echo to rule congenital heart lesion
• Passage of Ryle’s tube: if oesophageal obstruction is suspected , a
thick rubber tube is passed per os

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 Treatment

Low anomalities: Aim is to restore the anus to its normal anatomical

position within the external anal sphincter . Defect treated at birth

• Ectopic anus : ‘cutback’ or midline episiotomy is done.

• Covered anus: Skin folds such as median bands are excised. Where a
track exists it is laid open . Dilation of the anus is continued for 3
months.

• Anal membrane: This is excised and dilation of the anus performed.

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 Treatment
High Anomalies
•Regardless of obstruction a sigmoid colostomy is done first.
•At 3-6 months / 9kg baby the definitive surgery is done (posterior sagittal
anorectoplasty)
•Fistulous tracts are divided
•NB: To achieve continence ,its important to place the neorectum within
the puborectalis sling without damaging the muscle fibers or the nerve
supply
•The poorly developed external sphincter is also preserved.
•The colostomy is closed later
•Daily dilation for 3 months
•The level of continence achieved is poor because of the lack of
sphincteric control. Other factors are poor rectal sensation and disorders
of bowel motility.

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Anorectal stenosis:
• Daily dilation is required

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 Complications

• Incontinence especially in high abnormalities is a problem

• Stenosis or stricture at the mucocutenous junction after abdominal
pull-through may occur . Dilation is performed.
• Prolapse of the mucosa may occur and must be excised.

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 THANK YOU

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